A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14340344



Internal ID22208200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:21871943..21872084hg38UCSC Ensembl
chr8:21729454..21729595hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214637
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14340344
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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